{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T09:52:21Z","timestamp":1780653141684,"version":"3.54.1"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2025,5,11]],"date-time":"2025-05-11T00:00:00Z","timestamp":1746921600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004807","name":"DFG","doi-asserted-by":"publisher","award":["SE2373\/1-2"],"award-info":[{"award-number":["SE2373\/1-2"]}],"id":[{"id":"10.13039\/100004807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004807","name":"DFG","doi-asserted-by":"publisher","award":["384170921"],"award-info":[{"award-number":["384170921"]}],"id":[{"id":"10.13039\/100004807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004807","name":"DFG","doi-asserted-by":"publisher","award":["ZA 561\/3-2407168728"],"award-info":[{"award-number":["ZA 561\/3-2407168728"]}],"id":[{"id":"10.13039\/100004807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004807","name":"DFG","doi-asserted-by":"publisher","award":["ET144\/3-2 - 384170921"],"award-info":[{"award-number":["ET144\/3-2 - 384170921"]}],"id":[{"id":"10.13039\/100004807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>OI is a genetically diverse disorder characterized by bone fragility and deformities, with most cases attributed to dominant mutations in collagen I-related genes. However, mutations in TENT5A, encoding a poly(A) polymerase, have recently been implicated in severe, recessive forms of OI. We reported 3 individuals from a consanguineous family with a novel homozygous TENT5A variant (c.672G&amp;gt;T, p.Arg224Ser). Our patients presented with severe bone fragility, generalized osteopenia, skeletal deformities, short stature, and early wheelchair dependence. Patient-derived fibroblasts demonstrated impaired collagen secretion and disorganized fibril network formation. Our findings provide new insights into the complex pathophysiology of TENT5A-associated OI and underscore the need for further research into its role in skeletal homeostasis.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziaf083","type":"journal-article","created":{"date-parts":[[2025,5,11]],"date-time":"2025-05-11T11:00:02Z","timestamp":1746961202000},"source":"Crossref","is-referenced-by-count":1,"title":["TENT5A-associated osteogenesis imperfecta: long-term follow-up and molecular insights"],"prefix":"10.1093","volume":"9","author":[{"given":"Stefanie","family":"Stasek","sequence":"first","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Zaucke","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. 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